List of variants in gene SUFU reported as uncertain significance for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)	rs368020224	0.00011
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)	rs368178771	0.00009
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	rs79299301	0.00008
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	rs746322193	0.00002
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)	rs773037813	0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	rs778125780	0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)	rs770989077	0.00001
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg)	rs192025919	0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln)	rs1235137905	0.00001
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)	rs1305395503
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)	rs765345575
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)	rs1403040084

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